Genetic influences on dentognathic morphology in the Jirel population of Nepal.

Patterns of genetic variation and covariation impact the evolution of the craniofacial complex and contribute to clinically significant malocclusions in modern human populations. Previous quantitative genetic studies have estimated the heritabilities and genetic correlations of skeletal and dental traits in humans and nonhuman primates, but none have estimated these quantitative genetic parameters across the dentognathic complex. A large and powerful pedigree from the Jirel population of Nepal was leveraged to estimate heritabilities and genetic correlations in 62 maxillary and mandibular arch dimensions, incisor and canine lengths, and post-canine tooth crown areas (N ≥ 739). Quantitative genetic parameter estimation was performed using maximum likelihood-based variance decomposition. Residual heritability estimates were significant for all traits, ranging from 0.269 to 0.898. Genetic correlations were positive for all trait pairs. Principal components analyses of the phenotypic and genetic correlation matrices indicate an overall size effect across all measurements on the first principal component. Additional principal components demonstrate positive relationships between post-canine tooth crown areas and arch lengths and negative relationships between post-canine tooth crown areas and arch widths, and between arch lengths and arch widths. Based on these findings, morphological variation in the human dentognathic complex may be constrained by genetic relationships between dental dimensions and arch lengths, with weaker genetic correlations between these traits and arch widths allowing for variation in arch shape. The patterns identified are expected to have impacted the evolution of the dentognathic complex and its genetic architecture as well as the prevalence of dental crowding in modern human populations.

Craniofacial growth and morphology among intersecting clinical categories.

Differential patterns of craniofacial growth are important sources of variation that can result in skeletal malocclusion. Understanding the timing of growth milestones and morphological change associated with adult skeletal malocclusions is critical for developing individualized orthodontic growth modification strategies. To identify patterns in the timing and geometry of growth, we used Bayesian modeling of cephalometrics and geometric morphometric analyses with a dense, longitudinal sample consisting of 15,407 cephalograms from 1,913 individuals between 2 and 31 years of age. Individuals were classified into vertical facial types (hyper-, normo-, hypo-divergent) and anteroposterior (A-P) skeletal classes (Class I, Class II, Class III) based on adult mandibular plane angle and ANB angle, respectively. These classifications yielded eight facial type-skeletal class categories with sufficient sample sizes to be included in the study. Four linear cephalometrics representing facial heights and maxillary and mandibular lengths were fit to standard double logistic models generating type-class category-specific estimates for age, size, and rate of growth at growth milestones. Mean landmark configurations were compared among type-class categories at four time points between 6 and 20 years of age. Overall, morphology and growth patterns were more similar within vertical facial types than within A-P classes and variation among A-P classes typically nested within variation among vertical types. Further, type-class-associated variation in the rate and magnitude of growth in specific regions identified here may serve as targets for clinical treatment of complex vertical and A-P skeletal malocclusion and provide a clearer picture of the development of variation in craniofacial form.

Estimating Craniofacial Growth Cessation: Comparison of Asymptote- and Rate-Based Methods.

OBJECTIVE: To identify differences between asymptote- and rate-based methods for estimating age and size at growth cessation in linear craniofacial measurements. DESIGN: This is a retrospective, longitudinal study. Five linear measurements were collected from lateral cephalograms as part of the Craniofacial Growth Consortium Study (CGCS). Four estimates of growth cessation, including 2 asymptote- (GCasym, GCerr) and 2 rate-based (GCabs, GC10%) methods, from double logistic models of craniofacial growth were compared. PARTICIPANTS: Cephalometric data from participants in 6 historic longitudinal growth studies were included in the CGCS. At least 1749 individuals (870 females, 879 males), unaffected by craniofacial anomalies, were included in all analyses. Individuals were represented by a median of 11 images between 2.5 and 31.3 years of age. RESULTS: GCasym consistently occurred before GCerr and GCabs consistently occurred before GC10% within the rate-based approaches. The ordering of the asymptote-based methods compared to the rate-based methods was not consistent across measurements or between males and females. Across the 5 measurements, age at growth cessation ranged from 13.56 (females, nasion-basion, GCasym) to 24.39 (males, sella-gonion, GCerr). CONCLUSIONS: Adolescent growth cessation is an important milestone for treatment planning. Based on our findings, we recommend careful consideration of specific definitions of growth cessation in both clinical and research settings since the most appropriate estimation method may differ according to patients' needs. The different methods presented here provide useful estimates of growth cessation that can be applied to raw data and to a variety of statistical models of craniofacial growth.

Geometric morphometric analysis of growth patterns among facial types.

INTRODUCTION: Extreme patterns of vertical facial divergence are of great importance to clinicians because of their association with dental malocclusion and functional problems of the orofacial complex. Understanding the growth patterns associated with vertical facial divergence is critical for clinicians to provide optimal treatment. This study evaluates and compares growth patterns from childhood to adulthood among 3 classifications of vertical facial divergence using longitudinal, lateral cephalograms from the Craniofacial Growth Consortium Study. METHODS: Participants (183 females, 188 males) were classified into 1 of 3 facial types on the basis of their adult mandibular plane angle (MPA): hyperdivergent (MPA >39°; n = 40), normodivergent (28° ≤ MPA ≤ 39°; n = 216), and hypodivergent (MPA <28°; n = 115). Each individual had 5 cephalograms between ages 6 and 20 years. A set of 36 cephalometric landmarks were digitized on each cephalogram. Landmark configurations were superimposed to align 5 homologous landmarks of the anterior cranial base and scaled to unit centroid size. Growth trajectories were calculated using multivariate regression for each facial type and sex combination. RESULTS: Divergent growth trajectories were identified among facial types, finding more similarities in normodivergent and hypodivergent growth patterns than either share with the hyperdivergent group. Through the use of geometric morphometric methods, new patterns of facial growth related to vertical facial divergence were identified. Hyperdivergent growth exhibits a downward rotation of the maxillomandibular complex relative to the anterior cranial base, in addition to the increased relative growth of the lower anterior face. Conversely, normodivergent and hypodivergent groups exhibit stable positioning of the maxilla relative to the anterior cranial base, with the forward rotation of the mandible. Furthermore, the hyperdivergent maxilla and mandible become relatively shorter and posteriorly positioned with age compared with the other groups. CONCLUSIONS: This study demonstrates how hyperdivergent growth, particularly restricted growth and positioning of the maxilla, results in a higher potential risk for Class II malocclusion. Future work will investigate growth patterns within each classification of facial divergence.

Bayesian approach to longitudinal craniofacial growth: The Craniofacial Growth Consortium Study.

Early in the 20th century, a series of studies were initiated across North America to investigate and characterize childhood growth. The Craniofacial Growth Consortium Study (CGCS) combines craniofacial records from six of those growth studies (15,407 lateral cephalograms from 1,913 individuals; 956 females, 957 males, primarily European descent). Standard cephalometric points collected from the six studies in the CGCS allows direct comparison of craniofacial growth patterns across six North American locations. Three assessors collected all cephalometric points and the coordinates were averaged for each point. Twelve measures were calculated from the averaged coordinates. We implemented a multilevel double logistic equation to estimate growth trajectories fitting each trait separately by sex. Using Bayesian inference, we fit three models for each trait with different random effects structures to compare differences in growth patterns among studies. The models successfully identified important growth milestones (e.g., age at peak growth velocity, age at cessation of growth) for most traits. In a small number of cases, these milestones could not be determined due to truncated age ranges for some studies and slow, steady growth in some measurements. Results demonstrate great similarity among the six growth studies regarding craniofacial growth milestone estimates and the overall shape of the growth curve. These similarities suggest minor variation among studies resulting from differences in protocol, sample, or possible geographic variation. The analyses presented support combining the studies into the CGCS without substantial concerns of bias. The CGCS, therefore, provides an unparalleled opportunity to examine craniofacial growth from childhood into adulthood.

Mandibular symphyseal fusion in fossil primates: Insights from correlated patterns of jaw shape and masticatory function in living primates.

OBJECTIVES: Variation in primate masticatory form and function has been extensively researched through both morphological and experimental studies. As a result, symphyseal fusion in different primate clades has been linked to either the recruitment of vertically directed balancing-side muscle force, the timing and recruitment of transversely directed forces, or both. This study investigates the relationship between jaw muscle activity patterns and morphology in extant primates to make inferences about masticatory function in extinct primates, with implications for understanding the evolution of symphyseal fusion. MATERIALS AND METHODS: Three-dimensional mandibular landmark data were collected for 31 extant primates and nine fossil anthropoids and subfossil lemur species. Published electromyography (EMG) data were available for nine of the extant primate species. Partial least squares analysis and phylogenetic partial least squares analysis were used to identify relationships between EMG and jaw shape data and evaluate variation in jaw morphology. RESULTS: Primates with partial and complete symphyseal fusion exhibit shape-function patterns associated with the wishboning motor pattern and loading regime, in contrast to shape-function patterns of primates with unfused jaws. All fossil primates examined (except Apidium) exhibit jaw morphologies suggestive of the wishboning motor pattern demonstrated in living anthropoids and indriids. DISCUSSION: Partial fusion in Catopithecus, similar to indriids and some subfossil lemurs, may be sufficient to resist, or transfer, some amounts of transversely directed balancing-side muscle force at the symphysis, representing a transition to greater reliance on transverse jaw movement during mastication. Furthermore, possible functional convergences in physiological patterns during chewing (i.e., Archaeolemur) are identified.

Clinical implications of age-related change of the mandibular plane angle.

OBJECTIVE: To identify trajectories of ontogenetic change in the mandibular plane angle (MPA) and to describe the influence of sex and other factors on MPA during growth. SETTING/SAMPLE: The data consisted of 7026 MPA measurements from lateral cephalographs representing longitudinal series from ages 6 to 21 for 728 individuals from the Craniofacial Growth Consortium Study (CGCS). MATERIALS AND METHODS: Facial type was determined from MPA for each assessment, with the assessment closest to age 18 representing the adult facial type. The sample includes 366 males and 362 females, each with between 2 and 15 cephalographs. The mean number of cephalographs per individual is 10. Variation in childhood MPA (earliest assessment between 6 and 9 years of age) and adult MPA (closest assessment to age 18 between 15 and 21 years of age), and change in MPA from childhood to adulthood were compared by sex and adult facial type using ANOVA and post hoc t tests. RESULTS: Mandibular plane angle decreased from childhood to adulthood in 92% of males and 81% of females, yet increased in 36% of males and 50% of females with the hyper-divergent adult facial type. Childhood MPA and overall change in MPA were significantly different by adult facial type. CONCLUSIONS: Adult facial type is associated with differences in childhood MPA and change in MPA during growth. There are multiple ontogenetic pathways by which an individual can achieve a normo-divergent adult facial type, and an individual's childhood MPA does not necessarily correspond to his or her adult facial type.

Three-dimensional geometric morphometric analysis of talar morphology in extant gorilla taxa from highland and lowland habitats.

Western gorillas (Gorilla gorilla) are known to climb significantly more often than eastern gorillas (Gorilla beringei), a behavioral distinction attributable to major differences in their respective habitats (i.e., highland vs. lowland). Genetic evidence suggests that the lineages leading to these taxa began diverging from one another between approximately 1 and 3 million years ago. Thus, gorillas offer a special opportunity to examine the degree to which morphology of recently diverged taxa may be "fine-tuned" to differing ecological requirements. Using three-dimensional (3D) geometric morphometrics, we compared talar morphology in a sample of 87 specimens including western (lowland), mountain (highland), and grauer gorillas (lowland and highland populations). Talar shape was captured with a series of landmarks and semilandmarks superimposed by generalized Procrustes analysis. A between-group principal components analysis of overall talar shape separates gorillas by ecological habitat and by taxon. An analysis of only the trochlea and lateral malleolar facet identifies subtle variations in trochlear shape between western lowland and lowland grauer gorillas, potentially indicative of convergent evolution of arboreal adaptations in the talus. Lastly, talar shape scales differently with centroid size for highland and lowland gorillas, suggesting that ankle morphology may track body-size mediated variation in arboreal behaviors differently depending on ecological setting. Several of the observed shape differences are linked biomechanically to the facilitation of climbing in lowland gorillas and to stability and load-bearing on terrestrial substrates in the highland taxa, providing an important comparative model for studying morphological variation in groups known only from fossils (e.g., early hominins).